snail family transcriptional repressor 2
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A SNAI2 gene (often called SLUG) provides the instructions for making a protein called snail 2. Snail 2 belongs to the snail protein family, which plays a role in the formation of tissues during embryonic development. The snail 2 protein is also found in most adult tissues, so it probably helps maintain the normal function of cells after birth. To carry out these roles, snail 2 attaches to critical regions of DNA and helps control the activity of particular genes. On the basis of this action, the protein is called a transcription factor.
Normal function
A SNAI2 gene (often called SLUG) provides the instructions for making a protein called snail 2. Snail 2 belongs to the snail protein family, which plays a role in the formation of tissues during embryonic development. The snail 2 protein is also found in most adult tissues, so it probably helps maintain the normal function of cells after birth. To carry out these roles, snail 2 attaches to critical regions of DNA and helps control the activity of particular genes. On the basis of this action, the protein is called a transcription factor.
Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. Neural crest cells migrate from the developing spinal cord to specific regions in the embryo and give rise to many tissues and cell types, including some nerve tissue and pigment-producing cells called melanocytes. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin colour. Melanocytes are also found in certain regions of the brain and inner ear. The snail 2 protein probably plays a role in the formation and survival of melanocytes.
Conditions referring to this gene or chromosome
Other names
neural crest transcription factor SLUG
SLUG
slug homolog, zinc finger protein (chicken)
SLUG_HUMAN
SLUGH1
snail 2
snail family zinc finger 2
snail homolog 2 (Drosophila)
SNAIL2
WS2D
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Leitura adicional e referências
- snail family transcriptional repressor 2; MedlinePlus, National Library of Medicine.
- Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW. Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 1998 Aug 1;51(3):468-71. doi: 10.1006/geno.1998.5367.
- Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x. Epub 2009 Jun 23.
- Hemavathy K, Guru SC, Harris J, Chen JD, Ip YT. Human Slug is a repressor that localizes to sites of active transcription. Mol Cell Biol. 2000 Jul;20(14):5087-95. doi: 10.1128/MCB.20.14.5087-5095.2000.
- Lopez V, Jorda E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb 15;17(2):13.
- Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, Gonzalez-Sanchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sanchez-Garcia I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32. doi: 10.1002/ajmg.a.20345.
- Sanchez-Martin M, Rodriguez-Garcia A, Perez-Losada J, Sagrera A, Read AP, Sanchez-Garcia I. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002 Dec 1;11(25):3231-6. doi: 10.1093/hmg/11.25.3231.
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